ClinVar

NM_014425.5(INVS):c.198T>C (p.Ala66=)

Gene:

INVS:inversin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.1

Genomic location:

• Chr9: 100126474 (on Assembly GRCh38)
• Chr9: 102888756 (on Assembly GRCh37)

Preferred name:

NM_014425.5(INVS):c.198T>C (p.Ala66=)

HGVS:

• NC_000009.12:g.100126474T>C
• NG_008316.1:g.32246T>C
• NM_001318381.2:c.-179T>C
• NM_001318382.2:c.-792T>C
• NM_014425.5:c.198T>CMANE SELECT
• NP_055240.2:p.Ala66=
• NC_000009.11:g.102888756T>C
• NR_134606.2:n.396T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs150557072

NCBI 1000 Genomes Browser:

rs150557072

Molecular consequence:

• NM_001318381.2:c.-179T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001318382.2:c.-792T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_134606.2:n.396T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_014425.5:c.198T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1